Phonological assessment and analysis tools for Polish: Construction and use.

This contribution presents tools for the assessment of phonological development of Polish-learning children and an initial qualitative evaluation thereof. The tools are consistent with those developed for 16 other languages in a cross-linguistic study of phonological development that is embedded in the framework of constraint-based nonlinear phonology. This theoretical foundation underlies the composition of a Polish word list for elicitation plus a supplementary analysis and intervention planning form (where intervention is warranted). A qualitative pilot study evaluated the tools in terms of adherence to underlying theoretical constructs, coverage of Polish phonology in the developmental context and utility for testing two children, one of whom was characterised by protracted phonological development. Further steps are required to develop the test into a norm-referenced instrument for clinical and research purposes, including quantitative evaluations of the tools' psychometric properties.

Acquisition of the feature [+spread glottis] in Icelandic.

The feature [+spread glottis] ([+s.g.]) denotes that a speech sound is produced with a wide glottal aperture with audible voiceless airflow. Icelandic is unusual in the degree to which [+spread glottis] is involved in the phonology: in /h/, pre-aspirated and post-aspirated stops, voiceless fricatives and voiceless sonorants. The ubiquitousness of the feature could potentially affect the rate and process of its acquisition. This paper investigates the development of [+s.g.] in Icelandic, both in general and in a range of contexts, in a cross-sectional study of 433 typically developing Icelandic-speaking children aged two to seven years. As a feature, [+s.g.] is acquired early in Icelandic, although specific sound classes lag behind due to other output constraints. Children reach mastery of [+s.g.] by age three except in word-initial post-aspirated stops and voiceless nasals. Findings are interpreted in light of the literature on the feature and its development.

Singleton consonant onset acquisition in monolingual Granada Spanish-speaking preschoolers with typical versus protracted phonological development: Impacts of word structure and feature constraints.

While consonant acquisition clearly requires mastery of different articulatory configurations (segments), sub-segmental features and suprasegmental contexts influence both order of acquisition and mismatch (error) patterns (Bérubé, Bernhardt, Stemberger & Ciocca, 2020). Constraints-based nonlinear phonology provides a comprehensive framework for investigating the impact of sub- and suprasegmental impacts on acquisition (Bernhardt & Stemberger, 1998). The current study adopted such a framework in order to investigate these questions for Granada Spanish. Single-word samples of monolingual preschoolers in Granada (29 typically developing; 30 with protracted phonological development) were transcribed by native Spanish speakers in consultation with an international team. Beta regression analyses showed significant effects of age, developmental group, and word structure variables (word length, stress, position of consonants and syllables within the word); salience, markedness and/or frequency across the phonological hierarchy accounted for many patterns. The study further demonstrates the impacts of sub- and suprasegmental constraints of the phonological system on consonant acquisition.

A Japanese 4-year-old with protracted phonological development: the challenge of coronals.

This study examines the phonology of a Japanese four-year-old with mildly protracted phonological development (PPD) as a contribution to a special crosslinguistic issue presenting individual profiles in PPD within the framework of constraint-based nonlinear phonology. Although the child's word structure and vowels were well-established, certain consonant classes presented challenges. Coronal anterior obstruents often showed posteriorization (backing): dorsal stops replaced coronal stops, and with some exceptions, alveolopalatal affricates replaced anterior fricatives and affricates. The feature [+continuant] was also not yet established: palatal and bilabial fricatives and /h/ were either deleted or replaced with glottal stop; and non-anterior affricates replaced coronal fricatives. If affricates are analyzed as a sequence of [-continuant]-[+continuant], they were possible transitional elements from non-continuants to continuants. The profile culminates with suggestions for intervention based on the nonlinear phonological analysis, consistent with other papers in this special issue.

Interdentals to the rescue: a German four-year-old with protracted phonological development.

This paper examines the phonology of a German four-year-old with asynchronous phonological development: age-level word structure and vowels, but a restricted consonantal inventory. Both expected and unexpected developmental patterns were evident. While the absence of dorsal non-continuants and most coronal and labiodental fricatives and affricates is not unexpected in four-year-olds with PPD, less expected was his mastery of more marked /l/ and /ʁ/ and the pervasive use of ungrooved interdental fricatives (or affricates) as substitutions. Ungrooved interdentals often replace grooved fricatives and affricates, but in his system, they also replaced stops in more marked prosodic positions (unstressed initial syllables and clusters) and labiodental /f/. His case profile demonstrates the autonomy of phonological tiers (levels) but also the restrictive interactions that occur when one tier dominates, in his case, word structure. A proposed treatment plan targets new feature combinations and consonant sequences in order to address the asynchrony.

Complexity resolved: profile of a Slovenian child with protracted phonological development over an intervention period.

This paper describes the complex phonological patterns of one Slovenian-speaking girl with protracted phonological development who received phonological intervention. At 4;6, the child's word length, stress and vowels were age-level, but she showed reduced match levels (accuracy) for syllable structure and consonants. Unusual constraints on word position and sequences, particularly concerning fricatives and stops, resulted in many assimilations, reduplications and metatheses. Addressing these constraints in the first intervention period (to 4;9) led to higher overall accuracy and a transition from less typical to more typical mismatches ("errors"), e.g., sibilant grooving (stridency) and rhotic production as singletons and in clusters. The profile focuses on that initial pre- and post-treatment period, giving a brief overview of the follow-up intervention and outcomes and reflecting on implications for future research and clinical practice.11 The abstract is available in Slovenian language (see Supplementary material).

Uncommon timing variation in the speech of an Icelandic-speaking child with protracted phonological development.

The following paper presents an Icelandic-speaking child with protracted phonological development (PPD) over an intervention period (age 4;10 to 5;3) as a contribution to a special crosslinguistic issue describing individual profiles in PPD. Along with typical mismatch ("error") patterns, the child showed one pervasive and rare mismatch for Icelandic: compensatory lengthening of vowels when postvocalic consonant sequences reduced. Segment length is phonemic in Icelandic; thus, this pattern decreased her intelligibility considerably. A constraints-based nonlinear phonological framework served as a basis for analysis and intervention planning. Need addressed across the phonological hierarchy were: (1) accurate mapping between the timing tier (word structure level) and consonant and vowel tiers, through a focus on word-medial (WM) pre-aspirated stops; (2) onset complexity (word-initial (WI) /s/-clusters); and (3) a positional target, WI /f/. During intervention (17 sessions), she successfully produced training words for all targets. Monthly probes and a post-test at 5;3 revealed generalization to untrained words for pre-aspirated stops and labiodentals but not for /s/-clusters. Overall, compensatory vowel lengthening reduced substantially. The nonlinear analysis pointed specifically to the nature of the timing mismatches, supporting system-wide change.

When in doubt, glottal stop: A Mandarin-speaking three-year-old with protracted phonological development.

As part of a special issue on case profiles in protracted phonological development (PPD), we present a Mandarin-speaking three-year-old boy from Shanghai with severe PPD and no other developmental concerns. In comparison with typically developing (TD) children and a peer group from Shanghai with PPD, he had a very low Whole Word Match score (3.7% of words matched the adult targets exactly), reflecting severe constraints on word structure, consonants and diphthongs/triphthongs. His phonological output resembled that of younger children in its absence of fricatives, liquids and diphthongs/triphthongs alongside fairly high match for word length, tones and monophthongs, labials /p/ and /m/ and dorsal /k/. However, less expected was a pervasive glottal stop substitution in onset. The analysis describes his needs in detail but also strengths that could be exploited in phonological intervention.

When codas trump onsets: an English-speaking child with atypical phonological development before and after intervention.

This case study presents an English-speaking preschooler with severely protracted phonological development (PPD) before and after two six-week blocks of intervention (36 sessions). Pre-treatment (3;8), he showed very low whole word, singleton consonant, vowel, and word shape matches. He had two major uncommon patterns: (1) higher accuracy for word-final consonants compared with word-initial (WI) and word-medial (WM); and (2) frequent substitution of onset consonants with glottals [h] or [ʔ]. Goals and treatment strategies were selected using a nonlinear phonological approach. Post-treatment, there was a notable decrease in frequency of glottal substitutions and concomitant increase in word shape, consonant, and vowel match. Pre- and post-treatment data are presented and discussed in terms of theoretical and clinical implications.

Individual profiles in protracted phonological development across languages: introduction to the special issue.

Although group studies provide necessary information about the range and frequency of phenomena in phonological development, individual profiles (case studies) can be used to describe entire phonological systems in detail. Profiles from different languages can highlight similarities and differences across languages that may be less obvious in group studies. The current issue presents profiles of children with protracted phonological development (PPD: speech sound disorders) from 16 languages (Akan, Kuwaiti Arabic, Bulgarian, Canadian English, Farsi, Canadian French, German, Greek, Icelandic, Japanese, Mandarin, Polish, European Portuguese, Slovenian, Granada Spanish, Swedish). Utilising a constraints-based nonlinear phonological framework, each profile describes a child's strengths and needs in word structure, segments, features and their interactions and suggests an intervention plan. Where available, follow-up data from after clinical intervention are included. This introductory paper provides the theoretical background for the papers and reflects on the findings, drawing out particular themes and implications for phonological and developmental theories and clinical intervention.

When liquids and fricatives outrank stops: A Kuwaiti Arabic-speaking child with Down syndrome and protracted phonological development.

This paper describes the phonological system of a monolingual Kuwaiti Arabic-speaking 9-year-old girl with Down Syndrome (DS) as part of a special crosslinguistic issue presenting individual profiles of children with protracted phonological development within the framework of constraints-based nonlinear phonology. Her responses to a 100-word speech test were audio-recorded and transcribed narrowly by two native speakers. Analyses showed low accuracy for word shapes (CV sequences), primarily because of expected deletion patterns in initial weak syllables and clusters, but also reflecting inaccuracies in segment length. Vowel match was also relatively low. For consonants, she unexpectedly showed lower accuracy for stops than typically later-developing liquids and fricatives. This case study provides researchers and speech-language pathologists with broader information about expected and unexpected patterns in children with DS and protracted phonological development in general.

Protracted phonological development of a Portuguese six-year-old from the perspective of nonlinear phonology.

As a contribution to a special issue with individual profiles in protracted phonological development (PPD), we present a European Portuguese-speaking six-year-old, "Vicente". By age six years, Portuguese-learning children have generally mastered most of the phonology. However, Vicente showed severe persisting PPD, which was negatively impacting his general socialisation. Although word length and stress often matched the adult targets as did many consonants and vowels, consonants were restricted in distribution and sequences. Consonant clusters showed a particularly high proportion of reduction. A constraints-based nonlinear phonological analysis led to a proposed intervention plan to address needs across the phonological hierarchy in the context of his greater need for enhanced socialisation: starting with the more attainable new word positions and sequences for consonants in his inventory, before addressing a major need for new word structure (clusters) and minor needs for segmental development (additional coronals).

Complexity and sequence constraints in a Granada Spanish-speaking four-year-old with protracted phonological development.

This article describes the phonology of a Granada Spanish-speaking 4-year-old boy with Protracted Phonological Development (PPD) from the perspective of constraint-based nonlinear phonology. Although he had acquired basic word structure and a near-complete repertoire of vowels and consonants, he had difficulties producing more complex word structures (multisyllabic words, clusters, diphthongs) and producing sequences of consonant manner and place features across vowels. The analysis outlines his strengths and needs in phonological development, and proposes an intervention plan to address constraints on complexity and sequences.

The evolution of genetic counseling at Johns Hopkins Hospital and beyond.

In celebration of the 100th birthday of Dr. Victor A. McKusick, we look back at the history of genetic counseling at Johns Hopkins Hospital and at some milestones for the profession. With the first students graduating from the Human Genetics program at Sarah Lawrence College in 1971, the genetic counseling profession is celebrating its 50th anniversary this year. The profession has seen growth in numbers and scope of practice, the evolution of a national society, the advent of certification and accreditation, the proliferation of graduate programs, the pursuit of state licensure, and collaboration with fellow genetics professionals. Many of the early jobs were at academic centers, such as Johns Hopkins Hospital, while today counselors are employed in a multitude of settings and engaged in a variety of roles.

Consonant cluster acquisition in Chilean children with typical and protracted phonological development.

The current study addresses the acquisition of tautosyllabic consonant clusters (CCs) in Chilean preschoolers with typical (TD) versus protracted phonological development (PPD). The objectives were to analyze accuracy of CCs and mismatch (error) patterns as a function of age (4/ 5 years) and TD/PPD group, examining effects of sonority, stress, place of articulation and development of /l/ and /ɾ/ as singletons. Participants included 20 Chilean Spanish-speaking children with TD and 20 with PPD (ages 4 and 5 years). The TD group showed higher accuracy and an age effect. For both developmental groups, timing unit match was higher than full segmental match. CCs with labial and voiceless C1s in stressed syllables were most accurate. In the PPD group, deletions predominated over substitutions, deletions of C1 were significantly higher and the typology of substitutions was more differentiated. Results are evaluated in light of previous research on Chilean preschoolers, and clinical implications are discussed.

Phonetic Transcription for Speech-Language Pathology in the 21st Century.

The past few decades have seen rapid changes in speech-language pathology in terms of technology, information on speech production and perception, and increasing levels of multilingualism in communities. This tutorial provides an overview of phonetic transcription for the modern world, both for work with clients, and for research and training. The authors draw on their backgrounds in phonetics, phonology and speech-language pathology, and their crosslinguistic project in the phonological acquisition of children with typical versus protracted phonological development. Challenges and solutions are presented, as well as resources for further training of students, clinicians and researchers.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine.

Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies.

PURPOSE: As exome and genome sequencing (ES/GS) enters the clinic, there is an urgent need to understand the psychological effects of test result disclosure. Through a Clinical Sequencing Exploratory Research (CSER), phase 1 (CSER1) Consortium collaboration, we evaluated participants' psychological outcomes across multiple clinical settings. METHODS: We conducted a random effects meta-analysis of state anxiety (Hospital Anxiety and Depression Scale [HADS]/Generalized Anxiety Disorder 7-item), depressive symptoms (HADS/Personal Health Questionnaire 9-item), and multidimensional impact (i.e., test-related distress, uncertainty and positive impact: modified Multidimensional Impact of Cancer Risk Assessment/Feelings About Genomic Testing Results scale). RESULTS: Anxiety and depression did not increase significantly following test result disclosure. Meta-analyses examining mean differences from pre- to postdisclosure revealed an overall trend for a decrease in participants' anxiety. We observed low levels of test-related distress and perceptions of uncertainty in some populations (e.g., pediatric patients) and a wide range of positive responses. CONCLUSION: Our findings across multiple clinical settings suggest no clinically significant psychological harms from the return of ES/GS results. Some populations may experience low levels of test-related distress or greater positive psychological effects. Future research should further investigate the reasons for test-related psychological response variation.

Qualitative study of system-level factors related to genomic implementation.

PURPOSE: Research on genomic medicine integration has focused on applications at the individual level, with less attention paid to implementation within clinical settings. Therefore, we conducted a qualitative study using the Consolidated Framework for Implementation Research (CFIR) to identify system-level factors that played a role in implementation of genomic medicine within Implementing GeNomics In PracTicE (IGNITE) Network projects. METHODS: Up to four study personnel, including principal investigators and study coordinators from each of six IGNITE projects, were interviewed using a semistructured interview guide that asked interviewees to describe study site(s), progress at each site, and factors facilitating or impeding project implementation. Interviews were coded following CFIR inner-setting constructs. RESULTS: Key barriers included (1) limitations in integrating genomic data and clinical decision support tools into electronic health records, (2) physician reluctance toward genomic research participation and clinical implementation due to a limited evidence base, (3) inadequate reimbursement for genomic medicine, (4) communication among and between investigators and clinicians, and (5) lack of clinical and leadership engagement. CONCLUSION: Implementation of genomic medicine is hindered by several system-level barriers to both research and practice. Addressing these barriers may serve as important facilitators for studying and implementing genomics in practice.

Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings.

PURPOSE: Secondary findings from genomic sequencing are becoming more common. We compared how health-care providers with and without specialized genetics training anticipated responding to different types of secondary findings. METHODS: Providers with genomic sequencing experience reviewed five secondary-findings reports and reported attitudes and potential clinical follow-up. Analyses compared genetic specialists and physicians without specialized genetics training, and examined how responses varied by secondary finding. RESULTS: Genetic specialists scored higher than other providers on four-point scales assessing understandings of reports (3.89 vs. 3.42, p = 0.0002), and lower on scales assessing reporting obligations (2.60 vs. 3.51, p < 0.0001) and burdens of responding (1.73 vs. 2.70, p < 0.0001). Nearly all attitudes differed between findings, although genetic specialists were more likely to assert that laboratories had no obligations when findings had less-established actionability (p < 0.0001 in interaction tests). The importance of reviewing personal and family histories, documenting findings, learning more about the variant, and recommending familial discussions also varied according to finding (all p < 0.0001). CONCLUSION: Genetic specialists felt better prepared to respond to secondary findings than providers without specialized genetics training, but perceived fewer obligations for laboratories to report them, and the two groups anticipated similar clinical responses. Findings may inform development of targeted education and support.